palmoplantar keratoderma and congenital alopecia 2 (DOID:0111245)
Alliance: disease page
Synonyms: autosomal recessive palmoplantar hyperkeratosis and congenital alopecia; autosomal recessive palmoplantar keratoderma and congenital alopecia; CASS; cataract-alopecia-sclerodactyly syndrome; palmoplantar keratoderma and congenital alopecia, Wallis type; PPK-CA, Wallis type; PPKCA2; PPKCA Wallis type
Alt IDs: OMIM:212360, MESH:C535336, ORDO:1366, UMLS_CUI:C1859316
Definition: An ectodermal dysplasia characterized by autosomal recessive inheritance of alopecia, progressive palmoplantar hyperkeratosis resulting in sclerodactyly and usually associated with cataracts and pseudoainhum formation.